| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Classified gene: ASXL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Marked gene: ASXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Classified gene: ASXL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2037 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2028 | ASXL3 |
John Coleman gene: ASXL3 was added gene: ASXL3 was added to Genetic Epilepsy. Sources: NHS GMS,ClinGen,Literature Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL3 were set to PMID:33151654; 34436830; 29367179 Phenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome, OMIM:615115 Review for gene: ASXL3 was set to GREEN Added comment: Listed as Green entity on panel app uk. De novo loss of function variants and dominant negative variants reported. 1/3rd of patients with epilepsy according to Clingen and Genereviews. 11/39 phenotyped patients in a large cohort (PMID: 34436830) had seizures. Various types - absence, GTC, onset in pediatric age group or adult. Generally treatment responsive. Some adults with intractable difficult to treat seizures. Smaller cohort of 3 unrelated individuals (29367179) with seizures, 2 had PTC variants and 1 patient had a splice variant. Sources: NHS GMS, ClinGen, Literature |
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